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Items: 1 to 20 of 24

1.
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
Alessandra Bolino, Annalisa Bolis, Stefano Carlo Previtali, Giorgia Dina, Simona Bussini, Gabriele Dati, Stefano Amadio, Ubaldo Del Carro, Dolores D. Mruk, Maria Laura Feltri, C. Yan Cheng, Angelo Quattrini, Lawrence Wrabetz
J Cell Biol. 2004 Nov 22; 167(4): 711–721. doi: 10.1083/jcb.200407010
PMCID:
PMC2172586
AbstractArticlePDF–4.6M
2.
Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module
Philipp Berger, Christiane Schaffitzel, Imre Berger, Nenad Ban, Ueli Suter
Proc Natl Acad Sci U S A. 2003 Oct 14; 100(21): 12177–12182. Published online 2003 Oct 6. doi: 10.1073/pnas.2132732100
PMCID:
PMC218732
AbstractArticlePDF–524K
3.
Loss of Mtmr2 Phosphatase in Schwann Cells But Not in Motor Neurons Causes Charcot-Marie-Tooth Type 4B1 Neuropathy with Myelin Outfoldings
Annalisa Bolis, Silvia Coviello, Simona Bussini, Giorgia Dina, Celia Pardini, Stefano Carlo Previtali, Mariachiara Malaguti, Paolo Morana, Ubaldo Del Carro, Maria Laura Feltri, Angelo Quattrini, Lawrence Wrabetz, Alessandra Bolino
J Neurosci. 2005 Sep 14; 25(37): 8567–8577. doi: 10.1523/JNEUROSCI.2493-05.2005
PMCID:
PMC6725661
AbstractArticlePDF–858K
4.
The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling
Philipp Berger, Kristian Tersar, Kurt Ballmer-Hofer, Ueli Suter
J Cell Mol Med. 2011 Feb; 15(2): 307–315. Published online 2009 Nov 13. doi: 10.1111/j.1582-4934.2009.00967.x
PMCID:
PMC3822797
AbstractArticlePDF–970K
5.
The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression
Aubree A. Ng, Anne M. Logan, Eric J. Schmidt, Fred L. Robinson
Hum Mol Genet. 2013 Apr 15; 22(8): 1493–1506. Published online 2013 Jan 7. doi: 10.1093/hmg/dds562
PMCID:
PMC3605828
AbstractArticlePDF–700K
6.
Myotubularin related protein-2 and its phospholipid substrate PIP2 control Piezo2-mediated mechanotransduction in peripheral sensory neurons
Pratibha Narayanan, Meike Hütte, Galina Kudryasheva, Francisco J Taberner, Stefan G Lechner, Florian Rehfeldt, David Gomez-Varela, Manuela Schmidt
eLife. 2018; 7: e32346. Published online 2018 Mar 9. doi: 10.7554/eLife.32346
PMCID:
PMC5898911
AbstractArticlePDF–2.6M
7.
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte
Nat Commun. 2017; 8: 15661. Published online 2017 Jun 7. doi: 10.1038/ncomms15661
PMCID:
PMC5467247
AbstractArticlePDF–2.6M
8.
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth
Linda Sawade, Federica Grandi, Marianna Mignanelli, Genaro Patiño-López, Kerstin Klinkert, Francina Langa-Vives, Roberta Di Guardo, Arnaud Echard, Alessandra Bolino, Volker Haucke
Nat Commun. 2020; 11: 2835. Published online 2020 Jun 5. doi: 10.1038/s41467-020-16696-6
PMCID:
PMC7275063
AbstractArticlePDF–7.9M
9.
Foot Pad Skin Biopsy in Mouse Models of Hereditary Neuropathy
Patrizia Dacci, Giorgia Dina, Federica Cerri, Stefano Carlo Previtali, Ignazio Diego Lopez, Giuseppe Lauria, Maria Laura Feltri, Alessandra Bolino, Giancarlo Comi, Lawrence Wrabetz, Angelo Quattrini
Glia. 2010 Dec; 58(16): 2005–2016. doi: 10.1002/glia.21069
PMCID:
PMC3034192
AbstractArticlePDF–6.3M
10.
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies
Ilaria Vaccari, Giorgia Dina, Hélène Tronchère, Emily Kaufman, Gaëtan Chicanne, Federica Cerri, Lawrence Wrabetz, Bernard Payrastre, Angelo Quattrini, Lois S. Weisman, Miriam H. Meisler, Alessandra Bolino
PLoS Genet. 2011 Oct; 7(10): e1002319. Published online 2011 Oct 20. doi: 10.1371/journal.pgen.1002319
PMCID:
PMC3197679
AbstractArticlePDF–6.2M
11.
Dlg1, Sec8, and Mtmr2 Regulate Membrane Homeostasis in Schwann Cell Myelination
Annalisa Bolis, Silvia Coviello, Ilaria Visigalli, Carla Taveggia, Angela Bachi, Athar H. Chishti, Toshihiko Hanada, Angelo Quattrini, Stefano Carlo Previtali, Alessandra Biffi, Alessandra Bolino
J Neurosci. 2009 Jul 8; 29(27): 8858–8870. doi: 10.1523/JNEUROSCI.1423-09.2009
PMCID:
PMC6664895
AbstractArticlePDF–6.1M
12.
Pax6 Interactions with Chromatin and Identification of Its Novel Direct Target Genes in Lens and Forebrain
Qing Xie, Ying Yang, Jie Huang, Jovica Ninkovic, Tessa Walcher, Louise Wolf, Ariel Vitenzon, Deyou Zheng, Magdalena Götz, David C. Beebe, Jiri Zavadil, Ales Cvekl
PLoS One. 2013; 8(1): e54507. Published online 2013 Jan 14. doi: 10.1371/journal.pone.0054507
PMCID:
PMC3544819
AbstractArticlePDF–2.2M
13.
Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt
Jernej Murn, Kathi Zarnack, Yawei J. Yang, Omer Durak, Elisabeth A. Murphy, Sihem Cheloufi, Dilenny M. Gonzalez, Marianna Teplova, Tomaž Curk, Johannes Zuber, Dinshaw J. Patel, Jernej Ule, Nicholas M. Luscombe, Li-Huei Tsai, Christopher A. Walsh, Yang Shi
Genes Dev. 2015 Mar 1; 29(5): 501–512. doi: 10.1101/gad.258483.115
PMCID:
PMC4358403
AbstractArticlePDF–1.4M
14.
GenePaint.org: an atlas of gene expression patterns in the mouse embryo
Axel Visel, Christina Thaller, Gregor Eichele
Nucleic Acids Res. 2004 Jan 1; 32(Database issue): D552–D556. doi: 10.1093/nar/gkh029
PMCID:
PMC308763
AbstractArticlePDF–253K
15.
BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System
Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran
PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086
PMCID:
PMC1413568
ArticlePDF–99K
16.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
17.
Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray
Tetsuya S. Tanaka, Saied A. Jaradat, Meng K. Lim, George J. Kargul, Xiaohong Wang, Marija J. Grahovac, Serafino Pantano, Yuri Sano, Yulan Piao, Ramaiah Nagaraja, Hirofumi Doi, William H. Wood, III, Kevin G. Becker, Minoru S. H. Ko
Proc Natl Acad Sci U S A. 2000 Aug 1; 97(16): 9127–9132. doi: 10.1073/pnas.97.16.9127
PMCID:
PMC16833
AbstractArticlePDF–847K
18.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
19.
Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention
Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands
Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100
Correction in:
Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.
PMCID:
PMC283554
AbstractArticlePDF–481K
20.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M

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